Table 1.

Summary of the diseases caused by mutation in two Na⁺/K⁺ pump genes

	Na+/K+ Pump gene	Somatic vs Germline	Mutation	Na+/K+ Pump Function Loss	Inward Current	Dominant Negative
Primary aldosteronism (PA)	ATP1A1	Somatic de novo recurrent	L104R, V332G delF100_L104 delM102_L103 delM102_I106 delL103_L104 del delI322_I325 delF956_E961 delF959_E961 delE960_L964 EETA963S	Yes	Yes	Unlikely
			G99R I327S	Yes	No
Charcot-Marie Tooth (CMT) 2	ATP1A1	Germline familial	L48R P600A P600T A597T D601F D811A	Yes	No	Unknown
Intermediate CMT	ATP1A1	Germline familial	F207S G877S	Yes	Unknown	Likely
Hypomagnesemia accompanied by seizures and cognitive delay (HASCD)	ATP1A1	Germline de novo	L302R G303R	Yes	Likely	Unknown
			M857R	Yes	Unclear
Complex spastic paraplegia (CSP)	ATP1A1	Germline de novo	L337P	Yes	Unknown	Unknown
Borderline learning impairment/ sleep disorder/poor emotional control	ATP1A1	Germline de novo	G864R	Not tested	Unknown	Unknown
Severe developmental delay/ focal seizures	ATP1A1	Germline de novo	D933N	Yes	No	Unknown
Isolated dominant hypomagnesemia (IDH)	FXYD2	Germline familial	G41R	Yes	Unclear	Likely